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G |
Abat |
4-aminobutyrate aminotransferase |
treatment |
IMP |
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RGD |
PMID:24321005 |
RGD:9588540 |
NCBI chr10:7,503,351...7,599,474
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G |
Arx |
aristaless related homeobox |
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ISO |
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RGD |
PMID:19439424 |
RGD:11565833 |
NCBI chr X:58,016,233...58,028,149
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:16330482 PMID:16813600 PMID:18414213 PMID:18790821 PMID:19362436 PMID:19793311 PMID:20602487 PMID:21770923 PMID:21775177 PMID:22678952 PMID:22779007 PMID:22867051 PMID:23236174 PMID:24564546 PMID:25266480 PMID:25657822 PMID:25741868 PMID:26482601 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29852413 PMID:34837432 More...
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NCBI chr X:37,566,320...37,796,766
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G |
Cfl1 |
cofilin 1 |
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IEP |
protein:decreased expression:brain (rat) |
RGD |
PMID:24994451 |
RGD:11570411 |
NCBI chr 1:212,227,124...212,230,656
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G |
Crh |
corticotropin releasing hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11341487 |
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NCBI chr 2:104,059,184...104,061,048
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G |
Dnm1 |
dynamin 1 |
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ISO |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:36,002,535...36,055,220
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G |
Gad1 |
glutamate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:22662185 PMID:28492532 |
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NCBI chr 3:75,777,260...75,818,099
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16919904 |
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NCBI chr18:45,515,427...45,604,467
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:2753503 PMID:22275249 PMID:23692823 PMID:24318194 PMID:24759409 PMID:25741868 PMID:25959266 PMID:26467025 PMID:27535030 PMID:27602407 PMID:27779742 PMID:28133863 PMID:28492532 PMID:30776697 PMID:31780880 PMID:33336127 PMID:34711204 PMID:35104249 More...
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NCBI chr 3:168,194,776...168,253,831
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G |
Mast4 |
microtubule associated serine/threonine kinase family member 4 |
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ISO |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
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|
NCBI chr 2:35,627,190...36,219,090
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G |
Mc2r |
melanocortin 2 receptor |
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ISO |
DNA:snps:promoter:multiple (human) |
RGD |
PMID:19024088 |
RGD:6484693 |
NCBI chr18:62,001,980...62,015,567
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|
G |
Pik3ap1 |
phosphoinositide-3-kinase adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25262651 PMID:25741868 PMID:28492532 |
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NCBI chr 1:250,040,250...250,194,364
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G |
Plcb1 |
phospholipase C beta 1 |
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ISO |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:122,059,988...122,772,896
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 PMID:2554740 PMID:2853496 PMID:2983143 PMID:6107850 PMID:6143199 PMID:6254450 PMID:6259007 PMID:8381257 PMID:8928979 PMID:8980841 PMID:10908253 PMID:11341487 PMID:17287597 PMID:19039989 PMID:20078871 More...
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NCBI chr 6:32,659,137...32,665,175
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G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile spasms |
ClinVar |
PMID:32004447 |
|
NCBI chr 6:72,977,432...73,252,378
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532 PMID:34837432 More...
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NCBI chr X:37,771,135...37,800,894
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:71,360,840...71,479,870
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:18414213 PMID:19786696 PMID:20956790 PMID:23550958 PMID:23708187 PMID:23934111 PMID:23935176 PMID:25326635 PMID:25326637 PMID:25363760 PMID:25459969 PMID:25741868 PMID:25772804 PMID:26283219 PMID:26291284 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27334371 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28256214 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:28947817 PMID:29186148 PMID:29655203 PMID:29844171 PMID:30185235 PMID:30361185 PMID:30776697 PMID:30813884 PMID:30928199 PMID:31054490 PMID:31175295 PMID:31332282 PMID:31558572 PMID:31785789 PMID:31957018 PMID:31981491 PMID:31995133 PMID:32090326 PMID:32139178 PMID:32400968 PMID:32488064 PMID:32613771 PMID:32651551 PMID:32860008 PMID:33084218 PMID:33818783 PMID:34469436 More...
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NCBI chr 3:70,710,862...70,845,569
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:12374766 PMID:17881658 PMID:22365152 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25785782 PMID:26235739 PMID:27779742 PMID:28492532 PMID:28923014 PMID:29186148 PMID:29720203 PMID:30171078 PMID:31715021 More...
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NCBI chr 7:133,860,901...134,034,809
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G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:205,954,713...205,966,188
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|
G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:13,241,164...13,306,047
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome |
ClinVar RGD |
PMID:18414213 PMID:20887364 PMID:21193638 PMID:22612257 PMID:23934111 PMID:24781210 PMID:25326390 PMID:25356970 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26795593 PMID:26865513 PMID:26993267 PMID:27779742 PMID:28492532 PMID:29186148 PMID:29264391 PMID:30174244 PMID:30185235 PMID:30266908 PMID:30540253 PMID:30842647 PMID:31221716 PMID:31474318 PMID:32112430 PMID:32643187 PMID:23409955 More...
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RGD:12903963 |
NCBI chr 3:16,076,725...16,138,431
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G |
Trpm4 |
transient receptor potential cation channel, subfamily M, member 4 |
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ISO |
ClinVar Annotator: match by term: Hypsarrhythmia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:95,781,805...95,812,095
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G |
Tsc1 |
TSC complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18345974 |
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NCBI chr 3:32,367,434...32,416,565
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18345974 |
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NCBI chr10:14,125,679...14,160,317
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G |
Tuba1a |
tubulin, alpha 1A |
|
ISO |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:25741868 PMID:26130693 |
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NCBI chr 7:131,992,151...131,996,850
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G |
Ugdh |
UDP-glucose 6-dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:25741868 PMID:32001716 |
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NCBI chr14:43,202,480...43,226,002
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G |
Upb1 |
beta-ureidopropionase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18853477 |
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NCBI chr20:13,216,693...13,243,016
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: West syndrome |
ClinVar |
PMID:16199547 PMID:24456803 PMID:25411445 PMID:25741868 PMID:28492532 PMID:29808465 PMID:30356099 PMID:30362252 PMID:30853297 More...
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NCBI chr19:59,338,402...60,269,323
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G |
Fzd4 |
frizzled class receptor 4 |
|
ISS ISO |
OMIM:310600 ClinVar Annotator: match by term: Fetal iritis syndrome |
MouseDO ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:143,279,934...143,288,799
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G |
Ndp |
norrin cystine knot growth factor NDP |
|
ISO ISS |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria OMIM:310600 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 PMID:7795608 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8535448 PMID:8790105 PMID:8832723 PMID:8990009 PMID:9143917 PMID:9143918 PMID:9382152 PMID:9618247 PMID:10484772 PMID:10773814 PMID:11337749 PMID:11748312 PMID:14635119 PMID:15776010 PMID:16970763 PMID:17050281 PMID:17296899 PMID:17334993 PMID:20340138 PMID:20385941 PMID:20491809 PMID:22563645 PMID:22786811 PMID:23141577 PMID:25711638 PMID:25741868 PMID:26158506 PMID:26547627 PMID:28492532 PMID:30097784 PMID:30311386 PMID:30452590 PMID:31030433 PMID:31456290 PMID:33781268 PMID:34582765 PMID:34860240 PMID:35328049 More...
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NCBI chr X:5,796,487...5,820,934
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|
G |
Prss23 |
serine protease 23 |
|
ISO |
ClinVar Annotator: match by term: Fetal iritis syndrome |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:143,402,725...143,422,182
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|
G |
Tspan12 |
tetraspanin 12 |
|
ISO |
ClinVar Annotator: match by term: Atrophia bulborum hereditaria |
ClinVar |
PMID:25250762 PMID:25741868 |
|
NCBI chr 4:50,313,768...50,389,246
|
|
|
G |
Ccdc88a |
coiled coil domain containing 88A |
|
ISO |
ClinVar Annotator: match by term: PEHO syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr14:103,104,091...103,256,112
|
|
G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:decreased expression:cerebrospinal fluid: |
RGD |
PMID:11701291 |
RGD:8548849 |
NCBI chr 7:24,169,608...24,249,446
|
|
G |
Kif1a |
kinesin family member 1A |
|
ISO |
ClinVar Annotator: match by term: PEHO syndrome |
ClinVar |
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 PMID:26125038 PMID:26486474 PMID:27848944 PMID:28492532 PMID:31455732 PMID:31488895 PMID:31805580 PMID:32737135 PMID:33880452 More...
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|
NCBI chr 9:101,010,447...101,094,891
|
|
G |
Znhit3 |
zinc finger, HIT-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 |
|
NCBI chr10:69,775,885...69,790,471
|
|